Cockayne syndrome

Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.

Cutaneous photosensitivity

An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.

Total: 4

(per page)

PMID (PMCID)
21477313 (3083330)	MIXED_SAMPLE	Infant
	Cholestasis in patients with Cockayne syndrome and suggested modified criteria for clinical diagnosis.
	Abdel Ghaffar TY, Elsobky ES, Elsayed SM. Orphanet J Rare Dis. 2011;6:13.
	Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, cataract, and sensorineural hearing loss.
11443545	MIXED_SAMPLE	Infant, Newborn
	Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
	Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG. Am J Hum Genet. 2001;69(2):291-300.
	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low to normal birth weight, growth failure, brain dysmyelination with calcium deposits, cutaneous photosensitivity, pigmentary retinopathy and/or cataracts, and sensorineural hearing loss.
10739753	MIXED_SAMPLE	Child
	Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.
	Meira LB, Graham JM Jr, Greenberg CR, Busch DB, Doughty AT, Ziffer DW, Coleman DM, Savre-Train I, Friedberg EC. Am J Hum Genet. 2000;66(4):1221-8.
	Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits; cutaneous photosensitivity; pigmentary retinopathy, cataracts, or both; and sensorineural hearing loss.
9777763	MALE
	Cockayne syndrome without typical clinical manifestations including neurologic abnormalities.
	Miyauchi-Hashimoto H, Akaeda T, Maihara T, Ikenaga M, Horio T. J Am Acad Dermatol. 1998;39(4 Pt 1):565-70.
	Although patients with mild symptoms of atypical Cockayne syndrome (CS) have been described, there has not been a report of a patient with CS whose only clinical manifestation was cutaneous photosensitivity.